A Note from Chief Science Officer Dr. Dominique Pichard

I am thrilled to be joining International Rett Syndrome Foundation as the Chief Science Officer. Rett syndrome is near and dear to me and my family, as our oldest daughter, Catalina, has Rett syndrome. We received Catalina’s diagnosis when I was still in my medical residency training, and ultimately it was this new diagnosis that influenced my decision to focus my career on research. After my residency training, I moved to the National Institutes of Health (NIH) to launch my research career.

The NIH is a truly unique place where basic science research labs are down the hall from patient clinic rooms, and the interaction between the lab scientists and the clinical investigators is woven into the fabric of daily work. Many of the discoveries at NIH occur because of this close collaboration. While at NIH, my research focused on studying rare diseases. I designed early phase clinical trials for rare diseases to bring new treatments to patients. I also worked with an international group to develop outcome measurement tools to be used in clinical trials in order to have standard measurements upon which to determine the success of the drugs we were studying. To accomplish this, I worked closely with pharmaceutical companies and the Food and Drug Administration.

Strength in Support

I grew up in Maryland and now live in Annapolis, Maryland, with my husband and three children. I have had the good fortune of having strong Rett family support groups in the two cities I have lived in since Catalina’s diagnosis. This strong connection with other families with Rett syndrome got us through the early years after her diagnosis. Our family enjoys outdoor activities, including boating, alpine skiing, cycling, and many other pursuits that involve being outside and in motion. We are very fortunate that we have found a way to have Catalina join us on all of our outdoor adventures through adaptive solutions and the tireless efforts of therapists, instructors, and aides.

Merging Passion and Experience

I am excited to merge my personal passion for solving the challenges of Rett syndrome with my professional experience. Working for IRSF
is a truly unique opportunity. I am enthusiastic about IRSF’s multifaceted approach: addressing the lab work that is so critical to our understanding of Rett syndrome and its possible treatments, testing those treatments in clinical trials, supporting neurohabilitation, and identifying the best approach to improving the everyday lives of our children with Rett syndrome.

We are in a very exciting time in which we know the genetic cause of Rett syndrome, we are gaining a better understanding of all that this essential gene does, and we have pharmaceutical targets that we are testing in clinical trials. I am thankful to Dr. Steve Kaminsky, who made great strides in advancing this work. I had the pleasure of getting to know Steve during his time at IRSF, and I am honored to build on his foundation of excellence and integrity.

As CSO, my goal is to focus all of my energy on identifying promising research breakthroughs for Rett syndrome and creating a scientific path forward towards our ultimate goal of treating this devastating disorder so our children and loved ones with Rett syndrome can one day do more and struggle less with the challenges of Rett.